|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 28224 |
FusionGeneSummary for PPM1A_PRKCH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPM1A_PRKCH | Fusion gene ID: 28224 | Hgene | Tgene | Gene symbol | PPM1A | PRKCH | Gene ID | 5494 | 5583 |
| Gene name | protein phosphatase, Mg2+/Mn2+ dependent 1A | protein kinase C eta | |
| Synonyms | PP2C-ALPHA|PP2CA|PP2Calpha | PKC-L|PKCL|PRKCL|nPKC-eta | |
| Cytomap | 14q23.1 | 14q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein phosphatase 1Aprotein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform | protein kinase C eta type | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P35813 | P24723 | |
| Ensembl transtripts involved in fusion gene | ENST00000325642, ENST00000529574, ENST00000395076, ENST00000325658, | ENST00000332981, ENST00000555082, ENST00000556245, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 9 X 7 X 8=504 |
| # samples | 2 | 14 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(14/504*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PPM1A [Title/Abstract] AND PRKCH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | PPM1A | GO:0010991 | negative regulation of SMAD protein complex assembly | 16751101 |
| Hgene | PPM1A | GO:0016055 | Wnt signaling pathway | 10644691 |
| Hgene | PPM1A | GO:0016311 | dephosphorylation | 10644691 |
| Hgene | PPM1A | GO:0030177 | positive regulation of Wnt signaling pathway | 10644691 |
| Hgene | PPM1A | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 16751101 |
| Hgene | PPM1A | GO:0035970 | peptidyl-threonine dephosphorylation | 11559703|20801214 |
| Hgene | PPM1A | GO:0045893 | positive regulation of transcription, DNA-templated | 10644691 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | PRAD | TCGA-CH-5792-01A | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000325642 | ENST00000332981 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| intron-5UTR | ENST00000325642 | ENST00000555082 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| intron-intron | ENST00000325642 | ENST00000556245 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| intron-3CDS | ENST00000529574 | ENST00000332981 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| intron-5UTR | ENST00000529574 | ENST00000555082 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| intron-intron | ENST00000529574 | ENST00000556245 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| 5UTR-3CDS | ENST00000395076 | ENST00000332981 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| 5UTR-5UTR | ENST00000395076 | ENST00000555082 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| 5UTR-intron | ENST00000395076 | ENST00000556245 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| 5UTR-3CDS | ENST00000325658 | ENST00000332981 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| 5UTR-5UTR | ENST00000325658 | ENST00000555082 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
| 5UTR-intron | ENST00000325658 | ENST00000556245 | PPM1A | chr14 | 60716395 | + | PRKCH | chr14 | 61909829 | + |
Top |
FusionProtFeatures for PPM1A_PRKCH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPM1A | PRKCH |
| Enzyme with a broad specificity. Negatively regulatesTGF-beta signaling through dephosphorylating SMAD2 and SMAD3,resulting in their dissociation from SMAD4, nuclear export of theSMADs and termination of the TGF-beta-mediated signaling.Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in thetermination of TNF-alpha-mediated NF-kappa-B activation throughdephosphorylating and inactivating IKBKB/IKKB.{ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:18930133}. | Calcium-independent, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that is involvedin the regulation of cell differentiation in keratinocytes andpre-B cell receptor, mediates regulation of epithelial tightjunction integrity and foam cell formation, and is required forglioblastoma proliferation and apoptosis prevention in MCF-7cells. In keratinocytes, binds and activates the tyrosine kinaseFYN, which in turn blocks epidermal growth factor receptor (EGFR)signaling and leads to keratinocyte growth arrest anddifferentiation. Associates with the cyclin CCNE1-CDK2-CDKN1Bcomplex and inhibits CDK2 kinase activity, leading to RB1dephosphorylation and thereby G1 arrest in keratinocytes. Inassociation with RALA activates actin depolymerization, which isnecessary for keratinocyte differentiation. In the pre-B cellreceptor signaling, functions downstream of BLNK by up-regulatingIRF4, which in turn activates L chain gene rearrangement.Regulates epithelial tight junctions (TJs) by phosphorylatingoccludin (OCLN) on threonine residues, which is necessary for theassembly and maintenance of TJs. In association with PLD2 and viaTLR4 signaling, is involved in lipopolysaccharide (LPS)-inducedRGS2 down-regulation and foam cell formation. Upon PMAstimulation, mediates glioblastoma cell proliferation byactivating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection ofglioblastoma cells from irradiation-induced apoptosis bypreventing caspase-9 activation. In camptothecin-treated MCF-7cells, regulates NF-kappa-B upstream signaling by activatingIKBKB, and confers protection against DNA damage-inducedapoptosis. Promotes oncogenic functions of ATF2 in the nucleuswhile blocking its apoptotic function at mitochondria.Phosphorylates ATF2 which promotes its nuclear retention andtranscriptional activity and negatively regulates itsmitochondrial localization. {ECO:0000269|PubMed:10806212,ECO:0000269|PubMed:11112424, ECO:0000269|PubMed:11772428,ECO:0000269|PubMed:15489897, ECO:0000269|PubMed:17146445,ECO:0000269|PubMed:18780722, ECO:0000269|PubMed:19114660,ECO:0000269|PubMed:20558593, ECO:0000269|PubMed:21820409,ECO:0000269|PubMed:22304920}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for PPM1A_PRKCH |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for PPM1A_PRKCH |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| PPM1A | LXN, GRM3, ARRB1, ARRB2, SMAD1, SMURF1, FGFR2, NR4A1, HSPB1, RPLP0, ASB2, DCP1B, HSFY1, PRKAA1, FBXW11, CER1, PRSS22, ADAMTS12, CHST10, VWA9, INPPL1, PPM1B, RTEL1, GDF3, RNASE13, CHEK1, MAP4K5, NAA10, MAPK9, PKN1, PRKCI, HNRNPD, XRCC5, TOR1AIP1, ACTR5, PIGS, NEDD1, AKT1, EGFR, IGF1R, INSR, BCKDK, FANCI, GCN1L1, HSD17B4, HSDL2, IWS1, LETM1, PAK4, SLC25A5, SLFN11, UGGT1, DUSP12, DUSP22, HAO2, CERKL, TECPR2, QARS, INSL6, PDDC1, HIP1R, CCL22, ZDHHC11, UBE3D, ALDH3B1, FBXL14, MTERF2, LMTK2, AATK, ERBB4, ERBB2, ERBB3, KDR, ROR2, ALK, PTK7, PAK1, PAK2, CDC42BPA, CDC42BPB, PRKCA, CYLD, COQ2, SOAT1, SOD1, VDAC1 | PRKCH | CDK2, ZBTB8OS, MGMT, NFE2L2, PRKCH, VHL, PPP1R14A, HSP90AA1, GSK3A, BANP, AKAP13, PRKCA |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for PPM1A_PRKCH |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PPM1A_PRKCH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PRKCH | C0028754 | Obesity | 1 | CTD_human |
| Tgene | PRKCH | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|